Speragen is interested in advancing viable treatment options for rare disease, particularly where there is significant unmet need.
The primary focus is in rare neurological diseases with significant unmet medical needs. The first disease of focus is SSADH Deficiency (SSADHD). SSADHD is a rare, neurometabolic, disorder featuring intellectual disability, developmental delays, disproportionate language dysfunction, epilepsy, hypotonia, ataxia, sleep disorders, and psychiatric disturbances. SSADHD is a genetic, inborn error of metabolism with an autosomal recessive inheritance pattern. It is the most common genetic disorder for affecting the metabolism of the neurotransmitter GABA. GABA is the primary inhibitory neurotransmitter in the brain. Its principal role is reducing neuronal excitability throughout the nervous system. GABA is also directly responsible for the regulation of muscle tone.
In SSADHD, GABA metabolism is hindered resulting in subsequent elevations of both GABA and its precursor, GHB. SSADHD impacts all aspects of life and carries the serious threat of sudden unexplained death of epilepsy (SUDEP) and a life expectancy of 34 years. Identified in 1981, SSADHD has a few hundred enrolled into the patient registries globally.
The prevalence is currently unknown though likely ranges between 1 in 100,000 to 1 in 1,000,000. It is believed most affected individuals are currently either undiagnosed or misdiagnosed with Autism Spectrum Disorder or Intellectual Disability. There is currently no treatment for SSADHD. Speragen is working to change that.